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rs1057516215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516215(C;C)
Make rs1057516215(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108609
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516215
dbSNP (old)rs1057516215
ClinGenrs1057516215
ebirs1057516215
HLIrs1057516215
Exacrs1057516215
Gnomadrs1057516215
Varsomers1057516215
Maprs1057516215
PheGenIrs1057516215
Biobankrs1057516215
1000 genomesrs1057516215
hgdprs1057516215
ensemblrs1057516215
gopubmedrs1057516215
geneviewrs1057516215
scholarrs1057516215
googlers1057516215
pharmgkbrs1057516215
gwascentralrs1057516215
openSNPrs1057516215
23andMers1057516215
23andMe allrs1057516215
SNPshotrs1057516215
SNPdbers1057516215
MSV3drs1057516215
GWAS Ctlgrs1057516215
Max Magnitude0
ClinVar
Risk rs1057516215(C;C)
Alt rs1057516215(C;C)
Reference Rs1057516215(T;T)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082408T>C
CLNSRC
CLNACC RCV000409997.1,